title: Plasma fluorescence scanning and fecal porphyrin analysis for the diagnosis of variegate porphyria: precise determination of sensitivity and specificity with detection of protoporphyrinogen oxidase mutations as a reference standard.
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D005243:Feces / Q000737:chemistry*; D005420:Flavoproteins; D005453:Fluorescence; D005838:Genotype; D006801:Humans; D007223:Infant; D008875:Middle Aged; D024101:Mitochondrial Proteins; D009154:Mutation; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000235:genetics*; D017094:Porphyrias, Hepatic / Q000097:blood* / Q000175:diagnosis*; D011166:Porphyrins / Q000032:analysis*; D050768:Protoporphyrinogen Oxidase; D012015:Reference Standards; D012680:Sensitivity and Specificity
chemical_list: D005420:Flavoproteins; D024101:Mitochondrial Proteins; D011166:Porphyrins; D044925:Oxidoreductases Acting on CH-CH Group Donors; C493978:PPOX protein, human; D050768:Protoporphyrinogen Oxidase